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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.73683324C>T
CA4290006
BUD23,DNAJC30
c.100G>A (p.Gly34Arg)
n.300C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
7
g.73683324C>G
CA367828098
BUD23,DNAJC30
c.100G>C (p.Gly34Arg)
n.300C>G
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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